Which of the following diseases is characterized by a defect in sphingomyelinase, which results in macrophages with a foamy appearance?
A) Gaucher's
B) Fabry's
C) Tay-Sachs
D) Niemann-Pick

Question

Quizplus · Accepted Answer

Niemann-Pick disease is caused by a defect in sphingomyelinase, which results in the build-up of sphingomyelin in cells, particularly macrophages. The accumulation of sphingomyelin leads to the macrophages taking on a foamy appearance, giving the disease its nickname "foam cell disease". Gaucher's disease is caused by a defect in glucocerebrosidase, Fabry's disease is caused by a defect in alpha-galactosidase A, and Tay-Sachs disease is caused by a defect in hexosaminidase A, none of which result in the foamy macrophages seen in Niemann-Pick disease.

Which of the Following Diseases Is Characterized by a Defect